Varaico: Literature-Extracted Genetic Variants

Gene:MYL3
Variant:p.G128C
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MYL3

NM_000258.3:p.G128C

Associated Papers

Hypertrophic Cardiomyopathy Genotype-Phenotype Analysis in Lithuanian Single-Center Cohort.

Šukys M et al.

International Journal of Molecular Sciences, 2025

Genotype-Phenotype Relationship in Hypertrophic Cardiomyopathy.

Žebrauskienė D et al.

Genes, 2025

41010036 (PubMed )
Supplement: genes-16-01090-s001.zip › genes-3830911-supplementary › Supplemental_material_S2.pdf

Properties of Cardiac Myosin with Cardiomyopathic Mutations in Essential Light Chains.

Yampolskaya DS et al.

Biochemistry. Biokhimiia, 2022

Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.

Yadav S et al.

Pflugers Archiv : European Journal of Physiology, 2019

Thick Filament Protein Network, Functions, and Disease Association.

Wang L et al.

Comprehensive Physiology, 2018

A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity.

Andersen PS et al.

Biochemistry Research International, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."